Category Archives: Maternal PKU

Caring for Maternal PKU: Part III

Welcome to the third and final post in the Caring for Maternal PKU series. In Part I, readers were introduced to the research Kimberly R. Regis RN, MS, CPNP, conducted in support of her Doctorate of Nursing Practice final project at The Ohio State University. The objective of Regis’ research was to “describe the care needs and preferences of adult women of childbearing-age with PKU” by going directly to the women and asking about their experiences. In Part II of the series, we learned that despite being well-informed about the risks associated with maternal PKU, the group of women Regis interviewed had a relatively low combined pregnancy success rate. In an effort to see what factors—in addition to knowledge level—might be at play, Regis explored maternal PKU support systems by asking her participants the following questions:

  • What support systems do participants have that either help or hinder adherence to dietary management?
  • From the participants’ perspectives, what can be done to improve support for ongoing dietary management within the clinic service?

Maternal PKU, Pregnancy and PKU, PKU, PhenylketonuriaFor all of the women who participated in Regis’ study, family members were identified as being the greatest source of support. Mothers in particular were mentioned not only as a supporter but also as an individual who truly understood and empathized with what it was like to struggle with the low-protein diet. Other examples of how family members provided support included finding new recipes to cook or share with the PKU patient, or even in some cases, helping to pay for costly medical foods.

With regard to the support participants received from clinics, most felt that clinicians were friendly and supportive, but some concerns still existed. For example, some participants felt like information about new foods and treatment was only provided if the patient asked about it. Clinic staff did not always provide individualized advice and overall communication from the clinic occurred less frequently overtime.

Right now I’m still just in the monthly stages of taking my level every month, and that’s pretty much all that I hear from my nurse. And I never really hear from my dietician other than when I call her to order formula.”

The reality is that most PKU clinics are spread-thin and overworked because of having to respond to more than just PKU patients. But developing specialized care for maternal PKU is significantly more complicated than just refreshing clinical best practices. That’s because as Regis acknowledged, treatment for PKU has evolved over the years, allowing for more PKU patients to live longer and engage in “traditional” lifestyle activities such as pursuing advanced college degrees and starting families. Unfortunately, despite the need for individualized care, many PKU adults are still seeking treatment at a pediatric-focused facility such as Children’s Hospital. To be fair, participants within Regis’ study did not explicitly express concerns about receiving care from a pediatric institution; however, there was strong agreement on the need for more support beyond education.

What would this additional support look like? Regis suggests that social work, mental health and gynecological services may all be applicable for advancing the care of maternal PKU. No matter what the medical treatment of PKU will look like in the years to come, it must evolve to include geneticists, dieticians and nursing practitioners who understand and specialize in maternal PKU. Perhaps Regis herself said it best when she recognized women of childbearing age with PKU as being a “distinct population with the shared risk of having offspring with disabilities as a result of their genetic disorder.”

A distinct population – even one that is a subset of a group defined by a rare genetic disorder – should translate into individual, specialized care.

–NM

Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part II

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Caring for Maternal PKU: Part II

Maternal PKU, Phenylketonuria, Maternal PKU Knowledge Test

For the second installment in the Caring for Maternal PKU series, let’s take a closer look at the knowledge factors incorporated into the participant interviewee questions for Kimberly R. Regis’ Doctor of Nursing Practice final project, Childbearing age women with PKU: Assessment of care needs and preferences. In Part I of the series, questions four and five asked:

4. What is the knowledge level of the participants regarding PKU and maternal PKU?

5. How does knowledge level regarding PKU impact decisions regarding birth-control and family planning?

Why would Regis focus on the knowledge level of the adult women with PKU? For the last two decades, PKU research has focused in large part on emphasizing the need to educate adult women with PKU so they could better self-manage their condition and prevent the occurrence of maternal PKU syndrome. Regis wanted to “gain a better understanding of the ways in which a children’s hospital-based metabolic specialty clinic may best serve them [adult PKU women of childbearing age].” Was the answer that clinics should continue to serve maternal PKU patients by following conventional research, which emphasized the importance of ongoing education? Or was there a need for something more?

To explore these options, Regis started with the knowledge variable and had the six participants take the Maternal PKU Knowledge Test, a 10-question quiz that was developed in 1990 by Shiloh, St. James and Waisbren. The three authors recommended the test as a way for clinics to screen and identify adult women with PKU who might benefit from more education.

The study’s participants answered a majority of the questions correctly, with scores ranging from seven to 10 correct. The question that elicited the most trouble when trying to answer was number seven (you can see a complete list of questions and take the test for yourself by visiting the Maternal PKU Knowledge Test page on PKU Parlor). A common theme that emerged from the open-ended questions was that participants felt they received vague and oversimplified information, which lacked details for explaining the science behind why a developing fetus could be harmed by poor dietary control. One participant stated she had never been taught about maternal PKU saying, “I don’t even remember having the conversation.”

With regard to how the participants’ knowledge level may have impacted their family planning decisions, all of the participants reported that PKU strongly influenced their decision about whether or not to have children. Regis noted that one participant commented that she was afraid to have children because of the possible outcomes, while another participant who originally wanted a large family said that concerns over the PKU diet changed the number of children they would ultimately plan for.

“I never thought growing up that I could never had kids. I always had the big family in my head—five kids, four kids.”

Observations within the study also revealed that even though there were 12 pregnancies among the six participants, only four resulted in live births. So one begs to ask the question: If these six women were relatively well-informed about the risks associated with maternal PKU…AND if knowledge of those risks, as well as ways to minimize those risks, impacted the decisions these women made with regard to family planning, then what else could be the reason behind such a low pregnancy success rate?

Stay tuned for the concluding post in this three-part series on Caring for Maternal PKU. Assuming that education alone may not be enough to improve pregnancy success rates among adult PKU women, Part III will take a look at the support systems available to the participants in Regis’ study.

–NM

Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part III

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Caring for Maternal PKU: Part I

I recently came across a research paper written in 2011 by Kimberly R. Regis RN, MS, CPNP, and titled Childbearing age women with PKU: Assessment of care needs and preferences. As the final project for her Doctor of Nursing Practice at The Ohio State University, Regis used open-ended questions to gather insight on any concerns adult women with PKU may have as far as managing their condition and the impact those concerns may have on family planning decisions. Being a childbearing-aged woman with PKU, I must say that I truly identified with many of the observations documented in her research. This blog post is the first in a three-part series devoted to maternal PKU and the findings outlined in Regis’ research.

Nationwide Children’s Hospital Regional Genetics Center in Columbus, Ohio, PKU, PhenylketonuriaFor the purpose of this first entry, let me simply set the stage. Regis conducted telephone interviews with six different adult women who were PKU patients at Nationwide Children’s Hospital Regional Genetics Center in Columbus, Ohio. Though a small sample size, the participants were Caucasian, between the ages of 19 and 35, and had varying levels of protein intake. All but one of the participants was on formula and the most recent set of phe levels for the group ranged between 2.6 mg/dl and 19.9 mg/dl. Most shockingly though was that even with a combined total of 12 pregnancies among the six participants, only four resulted in live births.

Clearly, even with a small sample, this ratio is unacceptable…and, if one dares to make the leap, these figures could represent an issue much larger than just dietary adherence. This is the crutch of Regis’ research as she dug deeper under the complex layers of the genetic disorder and asked what exactly are the factors impeding these women from reaching dietary compliance. To help identify these factors, Regis asked participants the following six questions:

  1. How does PKU influence daily life?
  2. What strategies are used for dietary management?
  3. What support systems do participants have that either help or hinder adherence to dietary management?
  4. What is the knowledge level of the participants regarding PKU and maternal PKU?
  5. How does knowledge level regarding PKU impact decisions regarding birth-control and family planning?
  6. From the participants’ perspectives, what can be done to improve support for ongoing dietary management within the clinic service?

Those readers familiar with my blog know that maternal PKU is the primary reason for why I created PKU Parlor. As I contemplate a return to diet and eventual pregnancy, I am deeply concerned about the odds I’m facing and cannot help but empathize with the PKU women who are profiled in Regis’ study. I ask myself, “will I face miscarriage after miscarriage, or will I have a baby born with severe mental disabilities or congenital heart failure?” Just maybe I’ll be one of the fortunate ones who successfully return to diet and have a normal, healthy baby.  With all of this in mind, I’ll spend the next two posts in this series taking a closer look at the knowledge and support factors outlined in questions three through six listed above. I hope you will check back for more of this series and please comment in the field below to join-in on the conversation.

–NM

Caring for Maternal PKU: Part II

Caring for Maternal PKU: Part III

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Maternal PKU and Sapropterin

This past February, the National Institutes of Health (NIH) hosted a scientific review conference on Phenylketonuria to discuss the “state of the science and future research needs.” The event was free and open to the public, but even if you could not cover the cost of travel and accommodations, the two-day event was also broadcasted live via webcast. I managed to log-on during my lunch break and listened intently to a session on PKU and Pregnancy. To my surprise, much of the PKU and Pregnancy presentation focused on Sapropterin and its use during maternal PKU (Sapropterin is the generic name for Kuvan, the first prescription drug approved by the U.S. Food and Drug Administration to lower blood phe levels in PKU patients).

To be clear, Kuvan is not recommended for maternal PKU unless the benefits outweigh the risks. That is because when ranked on the FDA’s pregnancy classification of drugs, Sapropterin is considered a category C drug since it is still unclear whether Sapropterin crosses the human placenta.

Research presented at the NIH conference confirmed that in some rare instances, Sapropterin had been prescribed to pregnant PKU patients, but only when the woman could not achieve dietary control at the start of her pregnancy. As early as 2005, Sapropterin was the focus of a study led by medical pioneer and PKU advocate Dr. Richard Koch. The patient was responsive to Sapropterin and during her pregnancy, she continued the medication at 40, 60, and 100 mg per day in the first, second, and third trimesters. Used in combination with low-protein food, optimal phe levels were achieved without any nausea and vomiting. More importantly, the woman’s child was born normal. Four years later, another study conducted by one of the presenters, Dr. Gabriella Pridjian from Tulane Hayward Genetics Center, reported on another pregnant PKU patient who had difficulty tolerating low-phe protein supplements. She was instructed to divide the Sapropterin up twice daily and ultimately had a healthy baby delivered through c-section. Pridjian noted that there were plans to eventually formally test the baby (who was now three years old) for any intellectual or developmental issues.

In addition to these two case studies, the NIH panel reported that other pregnancies involving the use of Sapropterin were currently underway. In addition to concerns about whether Sapropterin harms a developing fetus, doctors admitted it was hard to determine if symptoms such as headache, rhinorrhea, vomiting, fever, abdominal pain, rashes or nasal congestion were a result of the prescription drug or simply associated with the pregnancy.

Even though the maker of Kuvan, BioMarin, does in fact encourage pregnant women who were exposed to Kuvan during their pregnancy to participate in ongoing studies about the drug’s effect, there are no plans for future controlled studies. Based on what little has been conducted, including the two case studies I’ve mentioned here, initial reports of using Sapropterin during pregnancy are encouraging. However, continued research on this matter is definitely a must, especially with concern to the long-term implications the drug might have on a PKU woman’s child.

–NM

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Filed under Conferences & Events, Kuvan, Maternal PKU, Research